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Gene CDKN2A
Variant E88*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions CDKN2A E88* results in a premature truncation of the Cdkn2a protein at amino acid 88 of 156 (UniProt.org). E88* has not been characterized, however, due to the effects of other truncation mutations downstream of E88 (PMID: 9053859, PMID: 8668202), is predicted to lead to a loss of Cdkn2a protein function.
Associated Drug Resistance
Category Variants Paths

CDKN2A mutant CDKN2A inact mut CDKN2A E88*

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Transcript NM_000077.5
gDNA chr9:g.21971097C>A
cDNA c.262G>T
Protein p.E88*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001195132 chr9:g.21971097C>A c.262G>T p.E88* RefSeq GRCh38/hg38
NM_000077 chr9:g.21971097C>A c.262G>T p.E88* RefSeq GRCh38/hg38
NM_000077.4 chr9:g.21971097C>A c.262G>T p.E88* RefSeq GRCh38/hg38
XM_011517675.3 chr9:g.21971097C>A c.262G>T p.E88* RefSeq GRCh38/hg38
XM_011517676 chr9:g.21971097C>A c.262G>T p.E88* RefSeq GRCh38/hg38
NM_001195132.2 chr9:g.21971097C>A c.262G>T p.E88* RefSeq GRCh38/hg38
NM_001195132.1 chr9:g.21971097C>A c.262G>T p.E88* RefSeq GRCh38/hg38
NM_000077.5 chr9:g.21971097C>A c.262G>T p.E88* RefSeq GRCh38/hg38
XM_011517676.3 chr9:g.21971097C>A c.262G>T p.E88* RefSeq GRCh38/hg38
XM_011517675 chr9:g.21971097C>A c.262G>T p.E88* RefSeq GRCh38/hg38
XM_011517675.2 chr9:g.21971097C>A c.262G>T p.E88* RefSeq GRCh38/hg38
XM_011517676.2 chr9:g.21971097C>A c.262G>T p.E88* RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References